EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2

General Information (adopted from Orphanet):

Synonyms, Signs: EBSB2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615425
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
2
(HPO:0001075) Atrophic scars 15 / 7739
3
(OMIM) Decreased immunostaining for BPAG1-e 1 / 7739
4
(OMIM) Hemidesmosomes show poorly formed inner plaques 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Blistering, mild (occurs mainly on ankles and feet and in response to trauma) 1 / 7739
7
(OMIM) Lucent zone between keratin filaments and outer hemidesmosomal plaques 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). ...
Clinical Description OMIM Groves et al. (2010) reported a 38-year-old Kuwaiti man, born of consanguineous parents, with epidermolysis bullosa simplex. He had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, ...
Molecular genetics OMIM In a Kuwaiti man with epidermolysis bullosa simplex, Groves et al. (2010) identified a homozygous truncating mutation in the DST gene (Q1124X; 113810.0002).

In a 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, ...